Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C1QTNF12_chr1_1237453_1251722	1245142	T T	TCCTCCTC others(441): Show TCCTCCTCCCCCACTCCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCC ACTCCTCTCCCCTCTTCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTC CCCCACTCCTCTCCCCTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCC TCCCCCCACTGCTCTCCCCTCTCTCCCCCACTCCTCCCCCACTCCTCTCC CCTCCTTCTCCACTCCTCTCCCCTCCCACTCCTCCCCACTCCTGTCCCCT CCTCCCCCCTCTTCCCCCTCCTCCCCCCACTCTCATCTCCCTCCTCCCCA CTCCTCTCCCCTCTTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTC CCCTCTTGCCCCCCACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTC TTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	328	0.0031	448	c.178 others(463): Show c.178-646_178-645insGAGAGGAGTGGGGGAGGAGGGGAGAGGAGT GGGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGA GGAGTGGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGG GGGGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGAGTGGGGGGAGG AGGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGAGGAGTGGGAGGGG AGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGAGAGA GGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGGAGGAGTGGGAGA GGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCGG GGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGGCA GAGGAGTGGGGGAGGAGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF8_chr16_1083226_1101244	1092950	A A	AGCACACA others(441): Show AGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGCGCTCAACC AATCCGTGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGC TCAACAAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGT CGGCGCTCAACGAATCCCTGCACACAGTCGGCGCTCAATCAATCCCTGCA CACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAACAAATC ACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACAGTCGGCGCTCAA CCAATCCGTGCACACAGTCGGCGCTCAACCAATCACTGCACACAGTCGGC GCTCAACCAATCACAGCACACAGTCGGCGCTCAATCAATCCCTGCACACA GTCGGCGCTCAACGAATCCGTGCACACAGTCGGCGCTCAATCAATCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	396	0.0025	448	c.4+ others(461): Show c.4+546_*4+547insAGGGATTGATTGAGCGCCGACTGTGTGCACGG ATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGT GCTGTGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTGAGCGCCGA CTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAG CGCCGACTGTGTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTG GTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGTGTGCAG GGATTCGTTGAGCGCCGACTGTGTGCAGGGATTGATTGAGCGCCGACTGT GTGCTGTGATTTGTTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCC GACTGTGTGCACGGATTGGTTGAGCGCCGACTGTGTGCAGTGATTGGTTG AGCGCCGACTGTGTGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1orf159_chr1_1076823_1121089	1080816	C C	CCTCGGTC others(441): Show CCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCT TCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTC GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	326	0.0031	448	c.20 others(459): Show c.2076_*2077insATGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAG GTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGG AGACAGGGACCGAG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1006		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1080916	G G	GGTCCCTG others(441): Show GGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCC TCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTC CCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG CCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTG TCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCC CACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTC CTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACC TCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTC CCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCATCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01192.hp2 HG01261.hp1 others(1): Show HG00099.hp1 HG01192.hp2 HG01261.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0011g0160	4	326	0.0123	448	c.19 others(459): Show c.1976_*1977insAGAGATGGGGGCGGAGGGAAGGAGACAGGGACCG AGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAA GGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGT GGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAG ACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGG GCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAG GGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGG AGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGAC CGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGG AAGGAGACAGGGAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		906		chr1	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(441): Show AGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCG GGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGG AGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCG GGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGG AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAG GGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGACGGAG GGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGG CGGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGACGGAGGGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	410	0.0024	448	c.465 others(463): Show c.465+102_465+103insGCCCTCCGTCCCTCCCTCCCTCCCGCCCTC CGTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTC CCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCC TCCCGCCCTCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTC CGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCC TCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCC TCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCTCCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404026	G G	GGTCTGAG others(441): Show GGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACG GGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGG GTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGG GGCCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTCT GAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGACGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACA GGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0026	1	322	0.0031	448	c.30 others(459): Show c.3069_*3070insACCCCTCAGGGCAGGACCCGTCCCCCCCACACCC CTCAGGGCAGGACCCTGTCCCCCCCTCACACCCCTCAGGGCAGGACCCGT CCCCCCCACACCCCTCAGGGCAGGACCCGTCCCCCCTCACACCCCTCAGG GCAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCAGGACCCGTCCCCCC CACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGA CCCCGTCCCCCCCTCAGACCCCTCAGGGCAGGACCCGTCCCCCCCACACC CCTCAGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCAGGGCAGGACCCC GTCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCC CTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCTCAGAC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1418		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(441): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGG CTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0001 a0023c0039t0001	a0023c0039t0001g0321 a0023c0039t0001g0321	1	326	0.0031	448	c.144 others(465): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTACGG others(441): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGG ATGATGACATCACTGCAGCTCTACGGACAGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGA CGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGC TTCCATCACTGACGCCCACGCAGGATGATGACATCACTGCAGTTCTACGG ACCGGCTTCCATCACTGACGCCCACGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(13): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02155.hp1 HG03239.hp1 HG04228.hp1 NA18961.hp1 NA18994.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0008c0009t0006	a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 others(13): Show a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0017g0084 a0001c0001t0017g0096 a0001c0001t0021g0086 a0008c0009t0006g0003	16	326	0.0491	448	c.129 others(465): Show c.129+9891_129+9892insACTGTAGTGATGTCATCATCCTGCGTGG GCGTCAGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTG CAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCTGTCCGTA GAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGG TCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGA AGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGT GATGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTACGG others(441): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGG ATGATGACATCACTGCAGCTCTACGGACAGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGA CGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGC TTCCATCACTGACGCCCACGCAGGATGATGACATCACTGCAGTTCTACGG ACCGGCTTCCATCACTGACGCCCACGCAGGATGATGACATCACTGCAGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	326	0.0031	448	c.129 others(465): Show c.129+9891_129+9892insACTGCAGTGATGTCATCATCCTGCGTGG GCGTCAGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTG CAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCTGTCCGTA GAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGG TCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGA AGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGT GATGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTACGG others(441): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGG ATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCA CGCAGGATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGA CGCCCACGCAGGATGATGACATCACTGCAGTTCTAGGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGC TTCCATCACTGACGCCCACGCAGGATGATGACATCACTGCAGTTCTACGG ACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	326	0.0031	448	c.129 others(465): Show c.129+9891_129+9892insACTGTAGTGATGTCATCATCCTGCGTGG GCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCCTAGAACTGCAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTG CAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTA GAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGG TCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGA AGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGT GATGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTACGG others(441): Show CTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGG ATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCA CGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGA CGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGC TTCCATCACTGACGCCCACGCAGGATGATGACATCACTGCAGTTCTACGG ACCGGCTTCCATCACTGACGCCCACGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	326	0.0031	448	c.129 others(465): Show c.129+9891_129+9892insACTGTAGTGATGTCATCATCCTGCGTGG GCGTCAGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTG CAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTA GAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGG TCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGA AGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGT GATGGAAGCCGGTCCGTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117365	C C	CTCTATGG others(441): Show CTCTATGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGG ATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCA CGCAGGATGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGA CGCCCACGCAGGATGATGACATCACTGCAGTTCTAGGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATCACTACAGTTCTACGGACCGGC TTCCATCACTGACGCCCACGCAGGATGATGACATCACTGCAGTTCTACGG ACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTACAGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	326	0.0031	448	c.129 others(465): Show c.129+9891_129+9892insACTGTAGTGATGTCATCATCCTGCGTGG GCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCATCATCCT GCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATGTCAT CATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCCTAGAACTGCAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTG CAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTA GAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGG TCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGA AGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGT GATGGAAGCCGGTCCATAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(441): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0103 a0001c0001t0009g0102 a0001c0001t0001g0103 a0001c0001t0009g0102	2	142	0.0141	448	c.244 others(467): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(441): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0052 a0001c0001t0042g0052	1	142	0.0070	448	c.244 others(467): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(441): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	142	0.0070	448	c.244 others(467): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC6_chr10_59783747_59911556	59882004	G G	GGGGAGAA others(441): Show GGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGG GGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	288	0.0035	448	c.303 others(467): Show c.303+24117_303+24118insTGCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCC TTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCC CTGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55384521	A A	ATATATAT others(441): Show ATATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTAT GTGTATATATACATATATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18998.hp2 NA18988.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0121 a0001c0001t0001g0138	2	316	0.0063	448	c.273 others(465): Show c.273+4256_273+4257insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATATACACATACATACGTA TATATGTATATATACACATACATACGTATATATGTATATATACACATACA TACGTATATATGTATATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55384560	C C	CATATATA others(441): Show CATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTA TATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTA TGTGTATATATACATATATACGTATGTATGTGTATATATACATATATACG TATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATA TATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATA TACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTG TATATATACATATATACGTATGTATGTGTATATATACATATATACGTATG TATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATA CGTATGTATGTGTATATATACACATATATACGTATGTATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	316	0.0032	448	c.273 others(465): Show c.273+4217_273+4218insATATATACACATACATACGTATATATGT GTATATATACACATACATACGTATATATGTATATATACACATACATACGT ATATATGTATATATACACATACATACGTATATATGTATATATACACATAC ATACGTATATATGTATATATACACATACATACGTATATATGTATATATAC ACATACATACGTATATATGTATATATACACATACATACGTATATATGTAT ATATACACATACATACGTATATATGTATATATACACATACATACGTATAT ATGTATATATACACATACATACGTATATATGTATATATACACATACATAC GTATATATGTATATATACACATACATACGTATATATGTATATATACACAT ACATACGTATATATGTATATATACACATACATACGTATATATGTATATAT ACACATACATACGTATATAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278749	C C	CCTCCCCC others(441): Show CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC TTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19074.hp1 NA19005.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0202 a0001c0001t0001g0203	2	256	0.0078	448	c.-45 others(469): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(441): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACATGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02647.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0057 a0001c0001t0010 a0001c0001t0057	a0001c0001t0010g0072 a0001c0001t0057g0046 a0001c0001t0010g0072 a0001c0001t0057g0046	2	168	0.0119	448	c.253 others(467): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA TATGTATATATGTATGTGTATACACACACATATATGTATATGTGTATGTG CATACACACACACACATGTATATATGTATGTGTATACACACACATATGTA TATATGTATGTGTATACACATACATATATACATGTGTGTGTGTGTATGCA CATACATATATACATATATGTGTGTGTATACACATACATATATACATATG TGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACACATA TGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATACACA CATATGTATATATGTATGTGTATACACACACACATATGTATATATGTATG TGCATACACACACATATGTATATATGTATGTGTATACACACACACATATG TATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(441): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp2 NA18906.hp2 others(1): Show HG02055.hp2 HG02451.hp2 NA18906.hp2 NA20905.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0019 a0002c0027 a0005c0010 others(1): Show a0002c0019 a0002c0027 a0005c0010 a0008c0007	a0002c0019t0012 a0002c0027t0028 a0005c0010t0016 others(1): Show a0002c0019t0012 a0002c0027t0028 a0005c0010t0016 a0008c0007t0006	a0002c0019t0012g0129 a0002c0027t0028g0030 a0005c0010t0016g0015 others(1): Show a0002c0019t0012g0129 a0002c0027t0028g0030 a0005c0010t0016g0015 a0008c0007t0006g0296	4	334	0.0120	448	c.-25 others(459): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(441): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	334	0.0030	448	c.-25 others(459): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881903	G G	GATATATA others(441): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAATCTATATAGATGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02647.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	2	440	0.0046	448	c.12 others(459): Show c.1273_*1274insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATAGATGTATCTATATATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCATCTATATAGATTATATATCT ATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATATAG ATGCATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		375		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(441): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	354	0.0028	448	c.69 others(459): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTAC CCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCT CCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(441): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATAT ATAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	402	0.0025	448	c.80- others(463): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATAT ATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTATTTATTTTAATATATAAAATATTTTATTTATTT ATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251520	T T	TAAATATT others(441): Show TAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAA TAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATA AATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18960.hp1 HG04115.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	402	0.0050	448	c.80- others(463): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTTAATATATAA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251534	A A	ATAAAATA others(441): Show ATAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATAT TAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAAT AAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTTAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	402	0.0025	448	c.80- others(463): Show c.80-4974_80-4973insAAAATAAATATTTATTTTAATATTAAAATA AATATTTATTTTATATATTAAATAAATATTTATTTTATATATTAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATA TAAAATATTTTATTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTTCCT others(441): Show CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCT CTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	223	0.0045	448	c.-42 others(459): Show c.-4275_-4274insTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCT CTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCT CTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCAC CTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(441): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20129.hp1 HG02723.hp1 NA20129.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0008 a0001c0025t0015 a0001c0025t0008 a0001c0025t0015	a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0025t0008g0203 a0001c0025t0015g0007	2	272	0.0074	448	c.925 others(463): Show c.925-674_925-673insCGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760335	A A	ATACACAC others(441): Show ATACACACCCACGCACCCCCACACTCATACACACATGCACACACACCACA CATGCACACAATACACACCCACACTCCCACACTCATACACACATGCACAC ACACCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACAC GCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACACA GGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGCA TACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACACT CACATGTGCACAGACACCACACATGGACACACATACATGCACACACACAT ACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGCG CGCACACGCATACACACCCACACACCCCACACTGATACATGCACACACG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0052 a0001c0015t0052	a0001c0015t0052g0016 a0001c0015t0052g0016	1	272	0.0037	448	c.193 others(467): Show c.1936-1590_1936-1589insTACACACCCACGCACCCCCACACTCA TACACACATGCACACACACCACACATGCACACAATACACACCCACACTCC CACACTCATACACACATGCACACACACCACACATGCACACACGCATACAC ACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACACTCATA CACACATGCACACACACCACACAGGCACACACACACCCACGCACCCCCAC ACTCATACATGCACACACACGCATACACGCCCACACACCCCCATACTCAT ACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACACATGGA CACACATACATGCACACACACATACACACCCACACCCCCACACTCATACA CACATGCACACACCACACATGCGCGCACACGCATACACACCCACACACCC CACACTGATACATGCACACACG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(441): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCG TCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCC CCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCT CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	350	0.0029	448	c.510 others(467): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCT CCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTC TCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(441): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01978.hp1 HG04115.hp1 others(4): Show HG00408.hp2 HG01978.hp1 HG04115.hp1 NA18942.hp1 NA18951.hp1 NA18974.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0166 a0001c0001t0003g0008 a0001c0001t0003g0318 a0001c0001t0001g0166 a0001c0001t0003g0008 a0001c0001t0003g0318	7	448	0.0156	448	c.51+ others(463): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(441): Show ATATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACT ATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTAT GTATACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGT ATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTAT ACTACATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATAT CGCGTAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTA CATACTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCG TAGTATGTATACTACATACTATGTATATCGCGTAGTATGTATACTACATA CTATGTATATCGCGTAGTATGTATACTACATACTATGTATATCGCGTAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02809.hp1 HG02976.hp1 others(4): Show HG01261.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0163 a0001c0001t0001g0007 a0001c0001t0001g0163	7	448	0.0156	448	c.51+ others(463): Show c.51+2315_51+2316insCTACGCGATATACATAGTATGTAGTATACA TACTACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATA GTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACT ACGCGATATACATAGTATGTAGTATACATACTACGCGATATACATAGTAT GTAGTATACATACTACGCGATATACATAGTATGTAGTATACATACTACGC GATATACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAG TATACATACTACGCGATATACATAGTATGTAGTATACATACTACGCGATA TACATAGTATGTAGTATACATACTACGCGATATACATAGTATGTAGTATA CATACTACGCGATATACATAGTATGTAGTATACATACTACGCGATATACA TAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(441): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	448	0.0022	448	c.51+ others(463): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DLGAP1_chr18_3491032_4460307	3609927	A A	ACATGCCT others(441): Show ACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCATGACAATCGCTT GAGCCTGGGAGGCGGAAGTTGTGGTGAGCCGAGATCGCCCCACTGCACTC CAGCCTGGGCGACAGAGACGCTGTCTCAAAAAAAAAGAAAACCATCTTGG AAACTCTGAGGGTTCTTTTTTGAGGGGGAAAGTTCATACTTTTAAGATGC TTTGGTTCCTACTGCATGAAGAGCCCCGCGATGAGTGCGTGTGAATGCAT ATGTTGAGATGCCTTTTCCTAGTGCTTAATATTAAAAATTCATCTCGGCC AGGCACGGTGCCTCACACCTGTAATCCCAGCACTTTAGGAGGCTGAGGCG GGCGGATCACCTGAGGTCGAGAGTTCGAGACCAGCCTGGCCAACATGAAG AAACTCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01192.hp2 others(17): Show HG00099.hp2 HG01106.hp2 HG01192.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02135.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03516.hp1 HG04184.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0041 a0001c0002t0011 a0001c0002t0014 a0001c0002t0024 a0001c0004t0036 a0001c0005t0005 a0001c0005t0017 a0001c0006t0013 a0001c0008t0025 a0001c0009t0026 a0003c0010t0003	a0001c0001t0001g0023 a0001c0001t0002g0047 a0001c0001t0003g0059 others(17): Show a0001c0001t0001g0023 a0001c0001t0002g0047 a0001c0001t0003g0059 a0001c0001t0003g0071 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0006g0002 a0001c0001t0008g0045 a0001c0001t0022g0043 a0001c0001t0041g0079 a0001c0002t0011g0013 a0001c0002t0014g0064 a0001c0002t0024g0034 a0001c0004t0036g0070 a0001c0005t0005g0038 a0001c0005t0017g0021 a0001c0006t0013g0073 a0001c0008t0025g0049 a0001c0009t0026g0041 a0003c0010t0003g0057	20	80	0.2500	448	c.159 others(469): Show c.1592-27680_1592-27679insCGCCACCATGCCTGGCTAATTTTT TGTATTTTTAGTAGAGATGGAGTTTCTTCATGTTGGCCAGGCTGGTCTCG AACTCTCGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGG ATTACAGGTGTGAGGCACCGTGCCTGGCCGAGATGAATTTTTAATATTAA GCACTAGGAAAAGGCATCTCAACATATGCATTCACACGCACTCATCGCGG GGCTCTTCATGCAGTAGGAACCAAAGCATCTTAAAAGTATGAACTTTCCC CCTCAAAAAAGAACCCTCAGAGTTTCCAAGATGGTTTTCTTTTTTTTTGA GACAGCGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGGGCGATCTCGGCTC ACCACAACTTCCGCCTCCCAGGCTCAAGCGATTGTCATGCCTCAGCCTCC CGAGTAGCTGGGATTACAGGCATG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DPEP1_chr16_89608642_89643433	89619366	C C	CCCCCCCG others(441): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	250	0.0040	448	c.-10 others(467): Show c.-107+5653_-107+5654insGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556306	G G	GTATATAT others(441): Show GTATATATATAGTATATATATAGTATATATATACTATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATAGTGTATATATATAGTATATATATAGTGTATATATATA GTATATATATAGTATATATATAGTATATATAGTATATATGTATATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0291 a0001c0003t0009g0291	1	316	0.0032	448	c.355 others(467): Show c.355-25653_355-25652insGTATATATATAGTATATATATACTAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATA TATAGTATATATATAGTATATATATAGTGTATATATATAGTATATATATA GTGTATATATATAGTATATATATAGTATATATATAGTATATATAGTATAT ATGTATATATATATAGTATATATATAGTATATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATAGTATATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132186856	T T	TCGGGGGC others(441): Show TCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCC GGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGG GGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGG GCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGC GGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGG GGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGG CCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCC TGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTG CCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0192 a0001c0002t0026g0192	1	418	0.0024	448	c.-20 others(457): Show c.-208_-207insCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGG GGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGG CGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCG GGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGG GCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGC CTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCT GCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC CGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCG GGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGCCGGG GGCGGGGCCTGC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		91		chr10	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(441): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	398	0.0025	448	c.477 others(467): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(441): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAAT GGATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAG AAGGATAGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGT GGGGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACAG AAGGATGTATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGAT GGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGG ATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGT GGATGAATGGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0082 a0001c0016t0001g0082	1	374	0.0027	448	c.772 others(463): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACC TCCCCACCCATCTATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCA TCCATCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCA TCCTTCTCTCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492360	G G	GGATGGAT others(441): Show GGATGGATAGAGAGAAGGATGGATGGGTGGGGAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGAGACAAT GGATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGACAG AAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGACGGGT GGGGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGACAG AAGGATGTATGGGTGGGGAGGTGGGTGGATAGATGGATGGATGGATGGAT GGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAGGTGGGTGGATGG ATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGGAGGTGGGTGAGT GGATGAATGGATGGATGGATAGATAGAAGGATGGATGGGTGGGACAACA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01358.hp1 HG01884.hp2 HG01168.hp2 HG01358.hp1 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0151 a0001c0002t0001g0212 a0001c0002t0001g0142 a0001c0002t0001g0151 a0001c0002t0001g0212	3	374	0.0080	448	c.772 others(463): Show c.772+776_772+777insTGTTGTCCCACCCATCCATCCTTCTATCTA TCCATCCATCCATTCATCCACTCACCCACCTCCCCACCCATCCATCCTTC TGTACATCCATCCATCCATCCATCCACCCACCTCCCTATCCATCCATCCT TCCATCCATCCATTTCCCCATCCATCCATCCATCCATCTATCCACCCACC TCCCCACCCATACATCCTTCTGTCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTCCCCACCCGTCCATCCTTCAATCCATCCATCCACC TCCCCACCCATCCATCCTTCTGTCCATCCATCCATCCATCCATCTCTCCA TCCATCCATCCATCCATCCATTGTCTCAACCATCCATCCTTCTCTCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTCCCCACCCATCCA TCCTTCTCTCTATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EIF3B_chr7_2349827_2385745	2377503	T T	TGTGTTCT others(441): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp1 HG00438.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	384	0.0052	448	c.215 others(465): Show c.2154+433_2154+434insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377557	C C	CCTGGGAA others(441): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	384	0.0026	448	c.215 others(465): Show c.2154+488_2154+489insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTG AATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTT CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTTCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377659	A A	AGGAGGAA others(441): Show AGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0330 a0001c0003t0001g0330	1	384	0.0026	448	c.215 others(465): Show c.2154+606_2154+607insTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377693	G G	GCCGTGTT others(441): Show GCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	384	0.0026	448	c.215 others(465): Show c.2154+619_2154+620insCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAATC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377779	G G	GGGTGTCA others(441): Show GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTCGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTCGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	384	0.0026	448	c.215 others(465): Show c.2154+711_2154+712insAGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTCGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTCG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTCGGTGTCA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACAG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCAGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGACAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02145.hp2 others(3): Show HG01074.hp2 HG02109.hp1 HG02145.hp2 HG02717.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0016 a0001c0001t0005 a0001c0002t0001 a0001c0002t0016	a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 others(3): Show a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0002t0001g0094 a0001c0002t0016g0018	6	188	0.0319	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCTGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCTGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCAGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGACAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0115 a0001c0001t0004g0116 a0001c0001t0002g0115 a0001c0001t0004g0116	2	188	0.0106	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCTGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGACAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01243.hp1 others(39): Show HG00639.hp2 HG01074.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG03239.hp2 HG03516.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 NA18944.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18973.hp2 NA18978.hp2 NA18984.hp1 NA18985.hp2 NA19004.hp2 NA19062.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0030 a0001c0001t0041 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0027 a0001c0005t0003 a0001c0008t0002	a0001c0001t0001g0098 a0001c0001t0002g0036 a0001c0001t0002g0050 others(39): Show a0001c0001t0001g0098 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0003g0013 a0001c0001t0003g0065 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0005g0149 a0001c0001t0007g0142 a0001c0001t0007g0182 a0001c0001t0007g0185 a0001c0001t0008g0001 a0001c0001t0008g0084 a0001c0001t0008g0105 a0001c0001t0008g0107 a0001c0001t0009g0032 a0001c0001t0009g0101 a0001c0001t0010g0086 a0001c0001t0010g0087 a0001c0001t0018g0103 a0001c0001t0021g0106 a0001c0001t0026g0092 a0001c0001t0030g0150 a0001c0001t0041g0187 a0001c0002t0001g0038 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0108 a0001c0002t0006g0174 a0001c0002t0012g0026 a0001c0002t0012g0034 a0001c0002t0027g0121 a0001c0005t0003g0120 a0001c0008t0002g0077	42	188	0.2234	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(441): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGGCAG AGGCGCTCCTCAGTTCCCAGATGGGGCGGCCGGACAGAAGCGCTCCTCAC ATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGACGGGG CGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGATAGAA GCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0183 a0001c0001t0007g0183	1	188	0.0053	448	c.-74 others(465): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTATCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTGGG GAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCC CGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCCCG TCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar

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